CLN8 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol CLN8
Gene name ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Chromosome 8
Chromosomal band p23.3
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_018941.3, XM_005266021.1, XM_005266022.1, XM_005266023.1, XM_005266024.1, XM_005266025.1, XM_005266026.1, XM_005266027.1, XM_005266028.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 2079
Entrez Gene 2055
PubMed articles CLN8
OMIM - Gene 607837
HGMD CLN8
GeneCards CLN8
GeneTests CLN8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003371 8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) NM_018941.3 NP_061764.2 1
00003372 8 transcript variant X1 XM_005266021.1 XP_005266078.1 1
00003373 8 transcript variant X2 XM_005266022.1 XP_005266079.1 1
00003374 8 transcript variant X3 XM_005266023.1 XP_005266080.1 1
00003375 8 transcript variant X4 XM_005266024.1 XP_005266081.1 1
00003376 8 transcript variant X5 XM_005266025.1 XP_005266082.1 1
00003377 8 transcript variant X6 XM_005266026.1 XP_005266083.1 1
00003378 8 transcript variant X7 XM_005266027.1 XP_005266084.1 1
00003379 8 transcript variant X8 XM_005266028.1 XP_005266085.1 1


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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium